Lambert S, Conboy J, Zail S
Department of Hematology, School of Pathology, University of Witwatersrand.
Blood. 1988 Dec;72(6):1926-9.
Genomic DNA from five kindreds and two individuals with hereditary elliptocytosis [HE(4.1+)] and a partial deficiency of protein 4.1 [HE(4.1+)] was extracted and probed with a cDNA for protein 4.1. When using a fragment of the cDNA that encompassed the coding region of the gene, two restriction fragment length polymorphisms segregating with protein 4.1 deficiency were found in one kindred when using the enzymes BgIII and PvuII but were not seen in the other HE(4.1+) subjects or in 20 random control individuals. DNA digested with three other enzymes (HindIII, EcoRI, TaqI) produced restriction patterns similar to controls. The unique BgIII and PvuII polymorphisms probably reflect a rearrangement of the coding region of the protein 4.1 gene as the underlying cause of the partial protein 4.1 deficiency in this family. A less likely possibility is that these polymorphisms represent coincidental single base changes unrelated to the primary gene defect.
从五个家族以及两名患有遗传性椭圆形红细胞增多症[HE(4.1+)]和蛋白4.1部分缺乏症[HE(4.1+)]的个体中提取基因组DNA，并用蛋白4.1的cDNA进行探测。当使用包含该基因编码区的cDNA片段时，在一个家族中，使用BgIII和PvuII酶时发现了两个与蛋白4.1缺乏相关的限制性片段长度多态性，但在其他HE(4.1+)受试者或20名随机对照个体中未观察到。用其他三种酶（HindIII、EcoRI、TaqI）消化的DNA产生的限制性图谱与对照相似。独特的BgIII和PvuII多态性可能反映了蛋白4.1基因编码区的重排，这是该家族中蛋白4.1部分缺乏的潜在原因。一种可能性较小的情况是，这些多态性代表与原发性基因缺陷无关的巧合单碱基变化。
